Smad4 regulates growth plate matrix production and chondrocyte polarity. [PDF]
, 2017 Smad4 is an intracellular effector of the TGFβ family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints.
Alliston, Tamara +4 more
core +3 more sources
Myelodysplastic syndromes and overlap syndromes
BLOOD RESEARCH, 2021 Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological neoplasms characterized by ineffective hematopoiesis, morphologic dysplasia, and cytopenia. MDS overlap syndromes include various disorders, such as myelodysplastic/myeloproliferative neoplasms and hypoplastic MDS with aplastic anemia characteristics.
openaire +3 more sources
The Egyptian Journal of Bronchology, 2020 Background Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) are both common in the adult population. The coexistence and association of both COPD and OSA have been described as the overlap syndrome.
Ahmed Gharib
doaj +1 more source
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]
, 2013 Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga +4 more
core +1 more source
SCLERODERMA – LUPUS OVERLAP SYNDROME: CASE REPORT [PDF]
Romanian Journal of Rheumatology, 2018 The overlap syndromes are a diverse group of conditions that usually have characteristic features of at least two well-defined rheumatic diseases occurring together.
Gabriela Ticu +4 more
doaj +1 more source
Thiotepa hyperpigmentation preceding epidermal necrosis: malignant intertrigo misdiagnosed as Stevens-Johnson syndrome-toxic epidermal necrolysis overlap [PDF]
, 2020 Thiotepa is a common alkylating agent known to precipitate cutaneous reactions consistent with toxic erythema of chemotherapy, including erythema and hyperpigmentation.
Choate, Evan A +3 more
core
Clinical characteristics of antimitochondrial antibody-positive patients at a safety net health care system in Arizona. [PDF]
, 2017 Background and aimsTo assess whether aspartate aminotransferase (AST), alanine aminotransferase (ALT) and alkaline phosphatase (AP) levels can predict the diagnosis of primary biliary cholangitis (PBC) or any other diagnoses and whether PBC occurs either
Ayutyanont, Napatkamon +6 more
core +1 more source
Magic state distillation with low overhead [PDF]
, 2012 We propose a new family of error detecting stabilizer codes with an encoding rate 1/3 that permit a transversal implementation of the pi/8-rotation $T$ on all logical qubits.
F. J. MacWilliams +5 more
core +2 more sources
Management of functional neurological disorder. [PDF]
, 2020 Functional neurological disorder (FND) is a common cause of persistent and disabling neurological symptoms. These symptoms are varied and include abnormal control of movement, episodes of altered awareness resembling epileptic seizures and abnormal ...
Coebergh, JA +7 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter +17 more
wiley +1 more source